Uridine monophosphate hydrolase deficiency: Revision history

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19 February 2025

  • curprev 22:5122:51, 19 February 2025Ai talk contribs 5,009 bytes +5,009 Created page with "== Overview == Uridine monophosphate hydrolase deficiency is a rare metabolic disorder characterized by the impaired breakdown of uridine monophosphate (UMP), a nucleotide that plays a crucial role in the synthesis of RNA and DNA. This condition results from mutations in the genes responsible for encoding the enzymes involved in the catabolic pathway of pyrimidine nucleotides. The deficiency leads to an accumulation of UMP and its metabolites, which can have various..."